SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2129747182 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129747280 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS2129748003 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2129748221 CYP7B1 Health Risk Pathogenic Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia 5A
RS2129748931 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129748972 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2129749121 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2129749144 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129749620 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129749657 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129751330 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2129751692 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal syndrome, type III
RS2129752164 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2129758198 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129758221 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129761877 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129762477 TTPA Health Risk Likely pathogenic —
RS2129762689 TTPA Health Risk Pathogenic —
RS2129762747 TTPA Health Risk Pathogenic —
RS2129763026 TTPA Health Risk Pathogenic —
RS2129763497 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2129763561 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2129764240 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2129765592 CHD7 Health Risk Pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS2129768696 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2129768973 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal syndrome, type III
RS2129769241 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome type 1 and 3, Trichorhinophalangeal syndrome type 1 and 3
RS2129772077 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129772259 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129772368 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129775201 PLPBP Health Risk Pathogenic Epilepsy, early-onset
RS2129776234 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS2129786098 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129786122 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129786157 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129786203 EXT1 Health Risk Likely pathogenic Abnormality of the skeletal system, Abnormality of the skeletal system
RS2129786342 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129786370 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129786574 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129786583 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129786671 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129790994 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129791072 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129791225 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129791337 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2129795580 TTPA Health Risk Pathogenic —
RS2129827835 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129827880 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129827996 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129828243 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS2129829309 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129829667 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS2129829803 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129831435 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS2129831443 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129831448 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129831647 GLDC Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS2129831711 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129837171 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129838943 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129850481 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129877362 TNFRSF11B Health Risk Pathogenic —
RS2129878039 TNFRSF11B Health Risk Pathogenic Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS2129885269 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129885505 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129888420 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129889298 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129890359 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS2129890380 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS2129895643 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129896575 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129897960 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129898042 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129898271 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129898670 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129903875 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS2129908974 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129909528 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129910401 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129910740 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129910887 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129914127 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129914287 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129914556 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129915273 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129915522 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129915767 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129915884 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129915990 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129916235 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129916293 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129916327 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129916678 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129916685 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129916804 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2129924518 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129925072 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129925355 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129926091 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS2129936761 GPAA1 Health Risk Pathogenic/Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
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